Transforming growth factor-β1 gene polymorphisms in Korean women with endometriosis

Problem To investigate the association between endometriosis, transforming growth factor-β1 (TGFB1) gene polymorphisms, and serum TGF-β1 levels in Korean women. Method of study The -509C/T, 868T/C, 913G/C and 979G/A polymorphisms of the TGFB1 gene were analyzed in women with (n=131) and without (n=107) endometriosis using restriction fragment length polymorphism (RFLP) analysis. Serum TGF-β1 levels were measured by enzyme-linked immunosorbent assay (ELISA). Results The 913G/C and 979G/A polymorphisms were not observed in the study participants. The genotype and allele distribution of the -509C/T and 868T/C polymorphisms in endometriosis were similar to those in controls. However, the -509T/868C (TC) haplotype allele was observed 4.55 times more frequently in early-stage endometriosis than in other haplotype alleles. Serum TGF-β1 levels were significantly higher in endometriosis than in controls. The single and haplotype genotype of -509C/T and 868T/C polymorphisms were not related with serum TGF-β1 levels. Conclusion The TC haplotype allele of TGFB1-509C/T and 868T/C polymorphisms may be associated with early-stage endometriosis in Korean women.